EP3959313A4 - METHODS AND COMPOSITIONS FOR MODULATING SPLICING OF ALTERNATIVE INTRONS - Google Patents

METHODS AND COMPOSITIONS FOR MODULATING SPLICING OF ALTERNATIVE INTRONS Download PDF

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Publication number
EP3959313A4
EP3959313A4 EP20795450.4A EP20795450A EP3959313A4 EP 3959313 A4 EP3959313 A4 EP 3959313A4 EP 20795450 A EP20795450 A EP 20795450A EP 3959313 A4 EP3959313 A4 EP 3959313A4
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EP
European Patent Office
Prior art keywords
compositions
methods
modulating splicing
introns
alternative
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Pending
Application number
EP20795450.4A
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German (de)
English (en)
French (fr)
Other versions
EP3959313A1 (en
Inventor
Isabel AZNAREZ
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Stoke Therapeutics Inc
Original Assignee
Stoke Therapeutics Inc
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Filing date
Publication date
Application filed by Stoke Therapeutics Inc filed Critical Stoke Therapeutics Inc
Publication of EP3959313A1 publication Critical patent/EP3959313A1/en
Publication of EP3959313A4 publication Critical patent/EP3959313A4/en
Pending legal-status Critical Current

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    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/111—General methods applicable to biologically active non-coding nucleic acids
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
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    • A61K31/00—Medicinal preparations containing organic active ingredients
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    • A61K31/7088—Compounds having three or more nucleosides or nucleotides
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
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    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/02—Drugs for disorders of the nervous system for peripheral neuropathies
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A61P27/02—Ophthalmic agents
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00—Drugs for disorders of the metabolism
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
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    • A61P35/00—Antineoplastic agents
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    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
    • C12N15/1138—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing against receptors or cell surface proteins
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/11—Antisense
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/14—Type of nucleic acid interfering nucleic acids [NA]
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/31—Chemical structure of the backbone
    • C12N2310/315—Phosphorothioates
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/32—Chemical structure of the sugar
    • C12N2310/322—2'-R Modification
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications
    • C12N2320/33—Alteration of splicing

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Animal Behavior & Ethology (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Medicinal Chemistry (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Molecular Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
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  • Biochemistry (AREA)
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  • Diabetes (AREA)
  • Hematology (AREA)
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  • Obesity (AREA)
  • Ophthalmology & Optometry (AREA)
  • Epidemiology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicinal Preparation (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
EP20795450.4A 2019-04-26 2020-04-24 METHODS AND COMPOSITIONS FOR MODULATING SPLICING OF ALTERNATIVE INTRONS Pending EP3959313A4 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201962839572P 2019-04-26 2019-04-26
PCT/US2020/029953 WO2020219977A1 (en) 2019-04-26 2020-04-24 Methods and compositions for modulating splicing of alternative introns

Publications (2)

Publication Number Publication Date
EP3959313A1 EP3959313A1 (en) 2022-03-02
EP3959313A4 true EP3959313A4 (en) 2023-09-27

Family

ID=72941393

Family Applications (1)

Application Number Title Priority Date Filing Date
EP20795450.4A Pending EP3959313A4 (en) 2019-04-26 2020-04-24 METHODS AND COMPOSITIONS FOR MODULATING SPLICING OF ALTERNATIVE INTRONS

Country Status (10)

Country Link
US (1) US20220162599A1 (https=)
EP (1) EP3959313A4 (https=)
JP (2) JP2022532998A (https=)
KR (1) KR20220019676A (https=)
CN (1) CN114127286A (https=)
AU (1) AU2020263581A1 (https=)
BR (1) BR112021021384A2 (https=)
CA (1) CA3134947A1 (https=)
MX (1) MX2021013081A (https=)
WO (1) WO2020219977A1 (https=)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2023348346A1 (en) * 2022-09-30 2025-03-27 Contera Pharma A/S Antisense oligonucleotides for the treatment of canavan disease
CN121059628A (zh) * 2024-06-03 2025-12-05 时夕(广州)生物科技有限公司 调控RNA剪接的向导agRNA

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2016054615A2 (en) * 2014-10-03 2016-04-07 Cold Spring Harbor Laboratory Targeted augmentation of nuclear gene output
WO2019004939A1 (en) * 2017-06-27 2019-01-03 Agency For Science, Technology And Research ANTISENSE OLIGONUCLEOTIDES FOR MODULATING THE FUNCTION OF A LYMPHOCYTE T

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20060058253A1 (en) * 2002-08-12 2006-03-16 Benoit Chabot Methods to reprogram splice site selection in pre-messenger rnas
EP2555778A4 (en) * 2010-04-06 2014-05-21 Alnylam Pharmaceuticals Inc COMPOSITIONS AND METHODS FOR INHIBITING CD274 / PD-L1 GENE EXPRESSION
AU2015206603B9 (en) * 2014-01-14 2019-07-18 Dana-Farber Cancer Institute, Inc. Compositions and methods for identification, assessment, prevention, and treatment of melanoma using PD-L1 isoforms
WO2017100587A1 (en) * 2015-12-09 2017-06-15 Alnylam Pharmaceuticals, Inc. Polynucleotide agents targeting programmed cell death 1 ligand 1 (pd-l1) and methods of use thereof
WO2017106377A1 (en) * 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Antisense oligomers for treatment of autosomal dominant mental retardation-5 and dravet syndrome
RU2747822C2 (ru) * 2016-03-14 2021-05-14 Ф. Хоффманн-Ля Рош Аг Олигонуклеотиды для понижения экспрессии pd-l1

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2016054615A2 (en) * 2014-10-03 2016-04-07 Cold Spring Harbor Laboratory Targeted augmentation of nuclear gene output
WO2019004939A1 (en) * 2017-06-27 2019-01-03 Agency For Science, Technology And Research ANTISENSE OLIGONUCLEOTIDES FOR MODULATING THE FUNCTION OF A LYMPHOCYTE T

Non-Patent Citations (7)

* Cited by examiner, † Cited by third party
Title
BOEHM VOLKER ET AL: "Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity", MOLECULAR CELL, ELSEVIER, AMSTERDAM, NL, vol. 72, no. 3, 1 November 2018 (2018-11-01), pages 482, XP085522298, ISSN: 1097-2765, DOI: 10.1016/J.MOLCEL.2018.08.030 *
DOROTHEE STAIGER ET AL: "Enter exitrons", GENOME BIOLOGY, BIOMED CENTRAL LTD, vol. 16, no. 1, 7 July 2015 (2015-07-07), pages 136, XP021228091, ISSN: 1465-6906, DOI: 10.1186/S13059-015-0704-3 *
JACOB AISHWARYA G ET AL: "Intron retention as a component of regulated gene expression programs", HUMAN GENETICS, SPRINGER BERLIN HEIDELBERG, BERLIN/HEIDELBERG, vol. 136, no. 9, 8 April 2017 (2017-04-08), pages 1043 - 1057, XP036320570, ISSN: 0340-6717, [retrieved on 20170408], DOI: 10.1007/S00439-017-1791-X *
MARQUEZ YAMILE ET AL: "Unmasking alternative splicing inside protein-coding exons defines exitrons and their role in proteome plasticity", GENOME RESEARCH, vol. 25, no. 7, 1 July 2015 (2015-07-01), US, pages 995 - 1007, XP093074987, ISSN: 1088-9051, DOI: 10.1101/gr.186585.114 *
See also references of WO2020219977A1 *
SIBLEY CHRISTOPHER R. ET AL: "Lessons from non-canonical splicing", NATURE REVIEWS GENETICS, vol. 17, no. 7, 31 May 2016 (2016-05-31), GB, pages 407 - 421, XP093074934, ISSN: 1471-0056, DOI: 10.1038/nrg.2016.46 *
WANG J ET AL: "Novel human BTB/POZ domain-containing zinc finger protein ZNF295 is directly associated with ZFP161", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, ELSEVIER, AMSTERDAM NL, vol. 327, no. 2, 11 February 2005 (2005-02-11), pages 615 - 627, XP004699402, ISSN: 0006-291X, DOI: 10.1016/J.BBRC.2004.12.048 *

Also Published As

Publication number Publication date
BR112021021384A2 (pt) 2021-12-21
US20220162599A1 (en) 2022-05-26
CN114127286A (zh) 2022-03-01
KR20220019676A (ko) 2022-02-17
AU2020263581A1 (en) 2021-12-16
MX2021013081A (es) 2021-12-10
WO2020219977A1 (en) 2020-10-29
EP3959313A1 (en) 2022-03-02
JP2022532998A (ja) 2022-07-21
JP2025128180A (ja) 2025-09-02
CA3134947A1 (en) 2020-10-29

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